ClinVar Miner

List of variants reported as benign for Atransferrinemia by Illumina Laboratory Services, Illumina

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001063.4(TF):c.-2A>G rs1130459 0.57926
NM_001063.4(TF):c.1572G>C (p.Leu524=) rs8649 0.26591
NM_001063.4(TF):c.624G>A (p.Ser208=) rs12769 0.26134
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296 0.13332
NM_001063.4(TF):c.739C>T (p.Leu247=) rs1799852 0.10437
NM_001063.3(TF):c.-84G>T rs8177186 0.07960
NM_001063.4(TF):c.804T>C (p.His268=) rs8177232 0.05865
NM_001063.4(TF):c.829G>A (p.Gly277Ser) rs1799899 0.04529
NM_001063.4(TF):c.1614C>T (p.Gly538=) rs8177286 0.01173
NM_001063.4(TF):c.582A>G (p.Pro194=) rs8177226 0.01102
NM_001063.4(TF):c.432C>T (p.Ser144=) rs41298987 0.01050
NM_001063.4(TF):c.417G>A (p.Thr139=) rs113868497 0.00362
NM_001063.4(TF):c.216+14G>C rs114449208 0.00299
NM_001063.4(TF):c.635+13T>A rs41298993 0.00246
NM_001063.4(TF):c.956A>G (p.His319Arg) rs41295774 0.00224

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